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Page 1
Hair and skin disorders as signs of mitochondrial disease.
Bodemer C, Rötig A, Rustin P, Cormier V, Niaudet P, Saudubray JM, Rabier D, Munnich A, de Prost Y. Bodemer C, et al. Among authors: rabier d. Pediatrics. 1999 Feb;103(2):428-33. doi: 10.1542/peds.103.2.428. Pediatrics. 1999. PMID: 9925836
Respiratory chain defects may present only with hypoglycemia.
Mochel F, Slama A, Touati G, Desguerre I, Giurgea I, Rabier D, Brivet M, Rustin P, Saudubray JM, DeLonlay P. Mochel F, et al. Among authors: rabier d. J Clin Endocrinol Metab. 2005 Jun;90(6):3780-5. doi: 10.1210/jc.2005-0009. Epub 2005 Mar 22. J Clin Endocrinol Metab. 2005. PMID: 15784700
Hepatic failure in disorders of oxidative phosphorylation with neonatal onset.
Cormier V, Rustin P, Bonnefont JP, Rambaud C, Vassault A, Rabier D, Parvy P, Couderc S, Parrot-Roulaud F, Carré M, et al. Cormier V, et al. Among authors: rabier d. J Pediatr. 1991 Dec;119(6):951-4. doi: 10.1016/s0022-3476(05)83054-9. J Pediatr. 1991. PMID: 1960616 No abstract available.
Liver transplantation in urea cycle disorders.
Saudubray JM, Touati G, Delonlay P, Jouvet P, Narcy C, Laurent J, Rabier D, Kamoun P, Jan D, Revillon Y. Saudubray JM, et al. Among authors: rabier d. Eur J Pediatr. 1999 Dec;158 Suppl 2:S55-9. doi: 10.1007/pl00014323. Eur J Pediatr. 1999. PMID: 10603100
Liver transplantation in propionic acidaemia.
Saudubray JM, Touati G, Delonlay P, Jouvet P, Schlenzig J, Narcy C, Laurent J, Rabier D, Kamoun P, Jan D, Revillon Y. Saudubray JM, et al. Among authors: rabier d. Eur J Pediatr. 1999 Dec;158 Suppl 2:S65-9. doi: 10.1007/pl00014325. Eur J Pediatr. 1999. PMID: 10603102
195 results